New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome

Pacault, Mathilde; Vincent, Marie; Besnard, Thomas; Kannengiesser, Caroline; Bénéteau, Claire; Barbarot, Sébastien; Latypova, Xénia; Belabbas, Khaldia; Lamazière, Antonin; Winer, Norbert; Joubert, Madeleine; Bézieau, Stéphane; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Leclerc-Mercier, Stéphanie; Hadj-Rabia, Smail; Dufernez, Fabienne

期刊名称European Journal of Human Genetics
作者Pacault, Mathilde; Vincent, Marie; Besnard, Thomas; Kannengiesser, Caroline; Bénéteau, Claire; Barbarot, Sébastien; Latypova, Xénia; Belabbas, Khaldia; Lamazière, Antonin; Winer, Norbert; Joubert, Madeleine; Bézieau, Stéphane; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Leclerc-Mercier, Stéphanie; Hadj-Rabia, Smail; Dufernez, Fabienne
印刷ISSN1018-4813
电子ISSN1476-5438
文件大小722.39KB
发表时间2018-8-22
DOI10.1038/s41431-018-0217-0

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New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome